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[Perspectives in familial hypercholesterolemia: with particular reference to associated ischemic heart disease]
1First Department of Internal Medicine, Niigata University School of Medicine.
Insights
Familial hypercholesterolemia (FH) patients frequently develop ischemic heart disease (IHD), even with cholesterol levels around 230 mg/dl. Men experience IHD complications a decade earlier than women, with higher sudden death rates.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Context:
- Familial hypercholesterolemia (FH) is an inherited condition leading to high cholesterol levels.
- Early onset of cardiovascular disease is a significant concern in FH patients.
- Understanding clinical profiles and sex differences in disease onset is crucial for FH management.
Purpose:
- To investigate the clinical profiles of heterozygous FH patients.
- To determine the distribution of total cholesterol (TC) and Achilles tendon thickness (ATT).
- To analyze the sex difference in the age of onset for ischemic heart disease (IHD).
Summary:
- The study analyzed 70 heterozygous FH patients (3-91 years) from 38 families.
- Mean TC was 332.2 mg/dl, mean ATT was 12.0 mm.
- IHD occurred in 20 men and 8 women, with men affected 2.5 times more frequently and a decade earlier (sixth decade vs. seventh).
- IHD was observed even at TC levels near 230 mg/dl.
- Sudden death was noted in 12 family members, particularly men.
Impact:
- Highlights the frequent association between FH and IHD, even at moderately elevated cholesterol levels.
- Emphasizes the earlier onset of IHD complications in men compared to women.
- Underscores the risk of sudden cardiac death in FH families, especially among males.
Abstract:
Seventy heterozygous patients with familial hypercholesterolemia (FH), aged 3 to 91 years (37 men and 33 women), from 38 different families were studied to ascertain their clinical profiles including the pattern of distribution of total cholesterol (TC), Achilles tendon thickness (ATT), and a sex difference in age at the onset of ischemic heart disease (IHD). Eighteen family members who died of IHD were included in this study. The TC level was 332.2 +/- 95.0 mg/dl (mean +/- SD), and the ATT was 12.0 +/- 2.7 mm. IHD was observed in 20 men and 8 women, with an incidence in men 2.5 times higher than that in women. The mean age at the onset of IHD in men was in the sixth decade, one decade younger than in women. IHD was even observed in patients with TC levels of nearly 230 mg/dl. One of the 18 family members was considered a homozygote of the disease by autopsy findings. Twelve of the remaining members died suddenly, and another five had fatal myocardial infarction. We conclude that, (1) IHD is frequently associated with FH, even though TC levels are 230-300 mg/dl, (2) complications of IHD peak earlier in men (sixth decade) than in women (seventh decade) and (3) relatively large numbers of family members died suddenly, especially men.